Transient fetal hypertrichosis - Three cases.

We Summarize a three cases of transient fetal hypertrichosis in low risk preganant women. Hypertrichosis has been previously associated with over 140 different syndromes (OMIM); however this finding is rarely described in prenatal ultrasound. In this study we describe the finding of hypertrichosis which resolved later in gestation. CASE N1: A prominent unibrow (synophrys) and elongated eyelashes were noted at 24 weeks of gestation with no other abnormal features. CASE N 2: A prenatal ultrasound scan was performed at 24 weeks and revealed: horseshoe kidney and localized hypertrichosis on the lower back. CASE N 3: Ultrasound exam at 24 weeks of gestation demonstrated localized hypertrichosis on the chin. CONCLUSION: Transient localized hypertrichosis with no other major findings has a favorable prenatal outcome.

Diverse outcome following early prenatal diagnosis of pulmonary stenosis.

OBJECTIVE: To assess the natural history and outcome of fetal pulmonary stenosis (PS), particularly that detected at 14-17 weeks' gestation. METHODS: In this retrospective study we searched an electronic database of women from the general Israeli population attending a private ultrasound institute (Al-Kol ultrasound institute in Haifa) for routine complete early fetal ultrasound, including all fetal systems and a fetal echocardiogram, between 2004 and 2015. Ninety-seven percent of the women were at low risk of fetal malformations, and 3% had risk factors such as maternal Type-1 diabetes mellitus, exposure during pregnancy to teratogenic drugs, or anomalies in previous pregnancies or in other family members. At presentation at 14-17 weeks of gestation, color and pulsed Doppler imaging were performed across the four cardiac valves. We identified cases in which abnormal flow was detected, leading to suspicion of PS; in these cases, a follow-up examination was carried out at 17-19 weeks and then monthly until delivery or resolution of the finding, and postnatal echocardiography was performed at birth, 4-6 weeks thereafter, and yearly afterwards. Outcome data for suspicious cases, including postnatal diagnosis and general or specific symptoms, were collected by contacting the parents via email or telephone. RESULTS: Among 24 185 early prenatal transvaginal ultrasound screening examinations, 23 cases of suspected PS were identified. They were classified into three groups, according to their ultrasound findings. In Group A (n = 8), the ultrasound screen was normal except for high flow velocity across the pulmonary valve. In six cases, this finding had resolved by 20-21 weeks of gestation and all were found to be normal at postnatal follow-up, one case underwent termination of pregnancy at 19 weeks and PS was confirmed at autopsy and one case was lost to follow-up. In Group B (n = 12), there was aliasing across the pulmonary valve. Two of these cases were normal postnatally and eight had mild-to-moderate PS; the remaining two cases developed hypoplastic right ventricle and pulmonary atresia at 19-20 weeks and the pregnancies were terminated. In Group C (n = 3) PS was associated with other anomalies; all three pregnancies were terminated. There were an additional six cases (Group D) not identified in early gestation, in which PS was late-onset. One had tricuspid regurgitation at the early screen, but was subsequently diagnosed with Ebstein's anomaly and pulmonary atresia, at 22 weeks, and was terminated. The other cases had completely normal early ultrasound screening examinations: one case had Ebstein's anomaly and PS was diagnosed at birth; four had isolated mild PS, of which one was diagnosed at 22 weeks' gestation and the other three were diagnosed postnatally, before 3 months of age. The sensitivity for detection of the ascertained cases of PS was 64% (11/17) and the specificity was > 99%. CONCLUSION: There is a diverse spectrum of presentation of fetal PS in the early mid-trimester. A possible explanation for this could be different pathophysiological pathways. Further study is needed to explain the different prenatal sonographic presentations in an unselected population. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Sonographic imaging of fetal tympanic rings.

OBJECTIVE: To examine the feasibility of ultrasonographic imaging of fetal tympanic rings. METHODS: This was an observational cohort study of 80 healthy fetuses in low-risk pregnancies, divided into four gestational-age subgroups (12, 16, 23 and 32 weeks), each comprising 20 consecutive fetuses. Tympanic ring visualization was achieved by two-dimensional and three-dimensional (3D) sonography. A standard algorithm for tympanic ring examination was constructed using 3D multiplanar reconstruction. The volume acquisition plane was directed to the inferolateral aspect of the fetal temporal bone. Transvaginal scans were carried out in the 12-week and 16-week subgroups, and transabdominal scans in the 23-week and 32-week subgroups. Study parameters included the inferomedial inclination angle (IMIA) of the tympanic ring relative to the vertical skull axis, the anteromedial inclination angle (AMIA) of the tympanic ring relative to the anteroposterior skull axis and the longest (LTRD) and shortest (STRD) tympanic ring diameter, the latter measured perpendicular to the LTRD. The feasibility of tympanic ring demonstration was assessed in each gestational-age subgroup. RESULTS: Tympanic rings appeared as round-oval, thin, echogenic structures in a plane tangential to the inferolateral surface of the fetal skull below the inferior border of the squamous part of the temporal bone. Higher demonstration rates were achieved in the 16-week and 23-week subgroups (90% and 80%, respectively) than in the others. LTRD and STRD each showed a linear correlation with gestational age (r = 0.96 for both measurements; P < 0.01). Mean IMIA ranged from 41.0 to 60.4° and mean AMIA from 17.3 to 23.4° across the different gestational-age subgroups. The malleal manubrium was observed only in examinations in the second half of pregnancy, appearing as a bright echo within the upper area of the tympanic ring in 56% (9/16) and 82% (9/11) of cases with tympanic ring imaging appropriate for measurement of the study parameters in the 23-week and 32-week subgroups, respectively. CONCLUSION: This is the first report of sonographic imaging of fetal tympanic rings and shows that this is feasible in the second trimester. We discuss the possible implications of our findings for the prenatal diagnosis of congenital hearing loss.

Prenatal diagnosis of cervical chondrocutaneous vestige.

Cervical chondrocutaneous vestiges or remnants originate from anomalous development of the branchial arches in the fourth week of gestation. Owing to their relative rarity, published data of cervical chondrocutaneous vestiges remain scarce. We report on the diagnosis and associated anomalies of cervical chondrocutaneous vestiges in three fetuses. The association of cervical chondrocutaneous vestige with other anomalies emphasizes the importance of performing meticulous examination and biochemical marker analysis in affected cases.

Sonographic imaging of cervical scars after Cesarean section.

OBJECTIVE: To investigate whether uterine contractions at the time of a Cesarean section have an impact on future presence and location of a cervical Cesarean scar. METHODS: A targeted transvaginal ultrasound examination of the fetus, uterus and cervix was done in 2973 consecutive women at 14-16 weeks' gestation. The sonographer was blinded to the women's previous obstetric histories. The presence and location of a sonographic cervical hypoechogenic line, which probably represented a Cesarean scar, was recorded. RESULTS: There were 180 women with a previous Cesarean section performed before the start of uterine contractions and 173 with a Cesarean section performed during contractions in labor. The cervical hypoechogenic line was more common in sections performed during contractions (75.7% vs. 52.7%; P < 0.001) and was more distally located from the internal os (17.9 +/- 9.4 vs. 14.6 +/- 9.1 mm; P = 0.01). A hypoechogenic line was observed in 21/2620 women without a previous Cesarean section, representing a false-positive rate of 0.8%. CONCLUSION: Cesarean sections, especially those done during uterine contractions, are actually performed through cervical tissue. This finding is in agreement with the physiological process of cervical effacement during contractions.

Ultrastructural criteria of malignancy of adrenal medullary tumor.

Histological analysis and electron microscopy of 12 benign pheochromocytomas and 9 malignant pheochromoblastomas showed that there are no reliable histological differences between cells of benign and malignant tumor of the adrenal medulla. The ratio of ultrastructurally differentiated and undifferentiated cells in the tumor can reflect their maturity; the more ultrastructurally undifferentiated and less differentiated cells in the tumor, the higher is the malignant potential of this tumor.

Anomalies of the fetal aortic arch: a novel sonographic approach to in-utero diagnosis.

OBJECTIVE: To describe a novel, sonographic approach for in-utero evaluation of normal and abnormal aortic arch. METHODS: Aortic arch was evaluated by imaging of the axial view of the upper fetal mediastinum. The normal left aortic arch was defined by the V-shaped appearance of the junction between the ductus arteriosus and aortic arch, with the trachea situated posteriorly. Right and double aortic arches were diagnosed when the great vessels appeared U-shaped, with intermediate location of the trachea. RESULTS: Between 1997 and 1999, 18 347 women were scanned in three prenatal centers, and pathological findings were prospectively recorded. In a retrospective analysis of the records, we identified 19 fetuses (0.1%) with atypical, U-shaped appearance, and no other structural abnormalities present. With the exception of one fetus with a ventricular septal defect, no congenital cardiac defects were present. Right aortic arch was found in 18 cases, while color Doppler made it possible to diagnose one case with double aortic arch, and one fetus was demonstrated as having Kommerell's diverticulum. In all 18 cases, a left descending aorta and left ductus arteriosus were present, the latter coursing to the left of the trachea, forming a loose partial vascular ring. All were asymptomatic at birth and early infancy. The fetus with double aortic arch that had a true vascular ring underwent early infantile correction. CONCLUSIONS: It is possible to diagnose right and double fetal aortic arch using prenatal ultrasound. The use of color Doppler facilitated in-utero evaluation of possible complications, such as true vascular ring.

The sonographic approach to the detection of fetal cardiac anomalies in early pregnancy.

BACKGROUND: Transvaginal sonography enables imaging of the fetal heart in various planes and directions in early pregnancy. This study summarizes our experience in early detection of fetal cardiac anomalies. METHODS: Transvaginal sonographic examination was performed in 36 323 consecutive fetuses in both high- and low-risk pregnancies. More than 99% of cases were evaluated at 14-16 weeks' gestation. Examination of the cardiovascular system did not rely on still images of the classic views but instead was performed in a dynamic mode visualizing the heart and great vessels from different directions and in various scanning planes. RESULTS: Cardiac anomalies were detected in 173 fetuses, giving an overall incidence of 1 in 210 pregnancies. In 44% of these, the cardiac anomaly was isolated. An abnormal karyotype was detected in 27 of the 72 cases that underwent chromosomal analysis. An abnormal nuchal translucency finding was observed in 59 fetuses. The sonographic diagnosis was confirmed after delivery or at postmortem in 90 cases. Ten fetuses had a cardiac anomaly which differed from the anomaly suggested by sonography. In the remaining cases, a postmortem examination was not possible because termination of pregnancy was performed by dilatation and curettage. In four cases we did not detect the cardiac anomaly in early pregnancy. Two of them were detected at rescanning in mid-pregnancy. CONCLUSION: Early detection of fetal cardiac anomalies is now possible. Most anomalies occur in low-risk pregnancies. We suggest performing a detailed early multidirectional dynamic continuous sweep ultrasound examination of the fetal cardiovascular system in all pregnancies.

[Immunomorphological characteristics of the infiltrative growth in well differentiated thyroid carcinoma]. / Immunomorfologicheskaia kharakteristika infil'trativnogo rosta vysokodifferentsirovannykh kartsinom shchitovidnoi zhelezy.

An immunomorphological study of 52 samples of normal thyroid tissue, 10 adenomas, 42 well differentiated carcinomas and 2 metastases has been performed using markers of the epithelium, extracellular matrix and angiogenesis. Basal keratin N 17 of the compound epithelium occurred only in malignant tumors. The highest number of the keratin N 17-positive cells was registered in sclerosing A-cell cancer, medullary and mixed C-cell cancer which is very aggressive. These cells locate in the foci of proliferation of tumor structures and in the regions of infiltrative growth. Multiple defects of basal membranes and prevalence of capillaries marked by antibodies to CD-31 over those identified by the antibodies to factor VIII were found in the areas of strong expression of keratin 17. Thus, the above markers detect foci of aggressive growth even in well differentiated thyroid carcinomas. This fact may be of prognostic value in oncomorphological practice.

[Expression of argyrophilic proteins from the nucleolar organizer regions as an index of maturity degree of benign and malignant adrenal tumors]. / Ekspressiia argirofil'nykh belkov oblastei iadryshkovogo organizatora kak pokazatel' stepeni zrelosti dobrokachestvennykh i zlokachestvennykh opukholei nadpochechnika.

Expression of APNOR was studied in 26 benign and malignant tumors of adrenal cortex and medulla. The histochemical method with silver nitrate was used. Expression of APNOR argyrophilic proteins in adrenocortical carcinomas was 4.59 times higher than in adrenocortical adenomas and 2.63 times higher in pheochromoblastomas than in pheochromocytomas. This index may be recommended as an additional method for differential diagnosis of benign and malignant adrenal tumors, particularly in difficult border line cases as well as determination of prognosis and metastatic potential of these tumors. Cytospecificity of APNOR expression in different types of adrenal cells was established.

Isolated hyperechogenic foci in the fetal thalamus in early pregnancy.

OBJECTIVE: To describe the sonographic features and outcome of fetuses with isolated hyperechogenic foci in the thalamic region. METHODS: A detailed sonographic survey was performed in 46,244 consecutive pregnancies. Both low- and high-risk pregnancies were included. Transvaginal examinations were performed at 14-16 weeks' gestation, while transabdominal examinations were performed after 18 weeks' gestation. RESULTS: Isolated hyperechogenic foci in the thalamic region were observed in seven fetuses. All cases were diagnosed at 14-16 weeks' gestation. Six fetuses had one hyperechogenic focus, and one fetus had two foci. The size of these foci ranged from 2-4 mm. A serologic work-up was negative in all these fetuses and their karyotype was normal. The hyperechogenic foci disappeared in mid-pregnancy in all cases, and fetuses were normal at delivery and on follow up to the age of 9 years. CONCLUSIONS: Isolated hyperechogenic foci in the thalamic region in early pregnancy are probably benign in nature.